ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.605A>C (p.Glu202Ala)

dbSNP: rs977288994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577775 SCV001805221 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002359189 SCV002654911 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-16 criteria provided, single submitter clinical testing The p.E202A variant (also known as c.605A>C), located in coding exon 1 of the SKI gene, results from an A to C substitution at nucleotide position 605. The glutamic acid at codon 202 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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